Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice

Neurobiology of Disease

Volumn 43, Issue 1, 2011, Pages 142-151

  Gogliotti, Rocky G ^a,b   Lutz, Cathleen ^c   Jorgensen, Michael ^a,b   Huebsch, Kimberly ^c   Koh, Sookyong ^a,b   DiDonato, Christine J ^a,b  

^a CHILDREN'S MEMORIAL HOSPITAL   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c JACKSON LABORATORY   (United States)

Author keywords

Metabotropic glutamate receptor 7; Mouse; Neurodegeneration; Seizure; SMA; Spinal muscular atrophy

Indexed keywords

MESSENGER RNA; METABOTROPIC RECEPTOR 7; PENTETRAZOLE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; DISEASE MODEL; FEAR; GENE; GENE EXPRESSION; GRAND MAL SEIZURE; HOMOZYGOTE; INTRON; KNOCKOUT MOUSE; MALE; METABOTROPIC GLUTAMATE RECEPTOR 7 GENE; MOLECULAR CLONING; MOUSE; NONHUMAN; OPEN FIELD TEST; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEIZURE SUSCEPTIBILITY; SPINAL MUSCULAR ATROPHY; SUDDEN DEATH; SURVIVAL TIME; TRANSGENE; TRANSGENIC MOUSE; WILD TYPE;

ANIMALS; DISEASE MODELS, ANIMAL; EPILEPSY; FEAR; GENETIC PREDISPOSITION TO DISEASE; GENOME; INTEGRATION HOST FACTORS; INTRONS; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MUSCULAR ATROPHY, SPINAL; RECEPTORS, METABOTROPIC GLUTAMATE; SURVIVAL ANALYSIS; TRANSGENES;

EID: 79955951003     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2011.03.002     Document Type: Article

References (32)

1. Avila A.M., et al. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J. Clin. Invest. 2007, 117:659-671.
2. Bushell T.J., et al. Altered short-term synaptic plasticity in mice lacking the metabotropic glutamate receptor mGlu7. ScientificWorldJournal 2002, 2:730-737.
3. Butchbach M.E., et al. Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. Biochem. Biophys. Res. Commun. 2010, 391:835-840.
4. Callaerts-Vegh Z., et al. Concomitant deficits in working memory and fear extinction are functionally dissociated from reduced anxiety in metabotropic glutamate receptor 7-deficient mice. J. Neurosci. 2006, 26:6573-6582.
5. Conn P.J., Niswender C.M. mGluR7's lucky number. Proc. Natl. Acad. Sci. USA 2006, 103:251-252.
6. Crawford T.O., Pardo C.A. The neurobiology of childhood spinal muscular atrophy. Neurobiol. Dis. 1996, 3:97-110.
7. Cryan J.F., et al. Antidepressant and anxiolytic-like effects in mice lacking the group III metabotropic glutamate receptor mGluR7. Eur. J. Neurosci. 2003, 17:2409-2417.
8. DiDonato C.J., et al. Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am. J. Hum. Genet. 1994, 55:1218-1229.
9. Foust K.D., et al. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat. Biotechnol. 2010, 28:271-274.
10. Gogliotti R.G., et al. Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy. Biochem. Biophys. Res. Commun. 2010, 391:517-522.
11. Heier C.R., DiDonato C.J. Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. Hum. Mol. Genet. 2009, 18:1310-1322.
12. Heier C.R., et al. SMN transcript stability: could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy?. J. Child Neurol. 2007, 22:1013-1018.
13. Holscher C., et al. Lack of the metabotropic glutamate receptor subtype 7 selectively impairs short-term working memory but not long-term memory. Behav. Brain Res. 2004, 154:473-481.
14. Hsieh-Li H.M., et al. A mouse model for spinal muscular atrophy. Nat. Genet. 2000, 24:66-70.
15. Kinoshita A., et al. Immunohistochemical localization of metabotropic glutamate receptors, mGluR7a and mGluR7b, in the central nervous system of the adult rat and mouse: a light and electron microscopic study. J. Comp. Neurol. 1998, 393:332-352.
16. Kosinski C.M., et al. Localization of metabotropic glutamate receptor 7 mRNA and mGluR7a protein in the rat basal ganglia. J. Comp. Neurol. 1999, 415:266-284.
17. Le T.T., et al. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum. Mol. Genet. 2005, 14:845-857.
18. Lefebvre S., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995, 80:155-165.
19. Masugi M., et al. Metabotropic glutamate receptor subtype 7 ablation causes deficit in fear response and conditioned taste aversion. J. Neurosci. 1999, 19:955-963.
20. Melki J., et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990, 344:767-768.
21. Melki J., et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 1994, 264:1474-1477.
22. Monani U.R., et al. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum. Mol. Genet. 2000, 9:333-339.
23. Monani U.R., et al. A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J. Cell Biol. 2003, 160:41-52.
24. Narver H.L., et al. Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition. Ann. Neurol. 2008, 64:465-470.
25. Neymotin A., et al. Lenalidomide (Revlimid) administration at symptom onset is neuroprotective in a mouse model of amyotrophic lateral sclerosis. Exp. Neurol. 2009, 220:191-197.
26. Pellizzoni L., et al. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell 1998, 95:615-624.
27. Sansig G., et al. Increased seizure susceptibility in mice lacking metabotropic glutamate receptor 7. J. Neurosci. 2001, 21:8734-8745.
28. Schauwecker P.E., Steward O. Genetic determinants of susceptibility to excitotoxic cell death: implications for gene targeting approaches. Proc. Natl. Acad. Sci. USA 1997, 94:4103-4108.
29. Schrank B., et al. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc. Natl. Acad. Sci. USA 1997, 94:9920-9925.
30. Singh N.N., et al. A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy. RNA Biol. 2009, 6:341-350.
31. Workman E., et al. A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum. Mol. Genet. 2009, 18:2215-2229.
32. Zerres K., Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch. Neurol. 1995, 52:518-523.